RESUMO
BACKGROUND: Dermatofibroma (DF) is a common benign soft-tissue tumor. It occurs anywhere on the body but is commonly seen on the upper and lower extremities. It is frequently found in young to middle-aged adults and predominantly in females. METHODS: Thirty-one patients with DF on the foot and ankle diagnosed and treated during a 6-year period were characterized. RESULTS: The patients (16 males, 15 females) were aged 7 to 75 years (average, 55 years). Clinically, 17 patients noted painful symptoms, and 14 were painless. Grossly, DF manifested as a raised red, pink, tan, or skin-colored soft mass. The tumor size ranged from 0.3 to 1.5 cm (average, 0.67 cm in diameter). Twenty-six DFs (84%) were localized on the dorsal surface of the foot and ankle, and five (16%) were found on the plantar aspect. Eighteen patients were treated by surgical excision of the tumor (>0.5 cm), and 13 patients had observational follow-up after punch biopsy due to the small size (≤0.5 cm) and benign nature of these lesions. Further follow-up found that only one patient (3.2%) had a local recurrence, 37 months after surgical excision, which was completely reexcised. Histologically, DF is characterized by proliferation of spindle fibroblasts and histiocytes, in a vague fascicular pattern, and thickened collagen bundles. CONCLUSIONS: Dermatofibroma on the foot and ankle predominantly occurs in patients in their 50s, without a preponderance by sex. It needs to be differentiated from other benign and malignant tumors with histologic analysis and immunostaining with factor XIIIa, CD68, and other biomarkers. Treatment options include either surgical excision or observational follow-up after biopsy, depending on the clinical characteristics and effect on functional activity.
Assuntos
Tornozelo , Histiocitoma Fibroso Benigno , Humanos , Feminino , Masculino , Pessoa de Meia-Idade , Histiocitoma Fibroso Benigno/patologia , Histiocitoma Fibroso Benigno/cirurgia , Adulto , Idoso , Adolescente , Criança , Adulto Jovem , Tornozelo/patologia , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgia , Estudos Retrospectivos , Pé/patologia , SeguimentosRESUMO
Hemosiderotic/aneurysmal variant of dermatofibroma (DF) is infrequent and may be misdiagnosed with malignant lesions. We report the case of a giant (7.6cm) subcutaneous hemosiderotic/aneurysmal DF (H/ADF) of the thigh in a 53-year-old female patient. Internal arterial and venous hypervascularity was seen by spectral Doppler ultrasound. Magnetic resonance image showed a discrete homogeneous hypointense in T1-weighted images (WI) and T2-WI mass, with hyperintense areas in fat-suppressed T2-WI. The histology revealed a monotonous fusocelular proliferation without atypia, positive for CD163, factor XIIIa and CD10. Widely distributed hemosiderin pigment and two blood-filled pseudovascular spaces lacking endothelial lining were present. H/ADF was diagnosed. The mass was removed but surgical margins were affected. The patient did not present local relapse or distant metastasis. H/ADF are unusual cutaneous soft tissue tumours that can be clinically, radiologically and histopathologically confused with malignant lesions such as melanomas, vascular lesions or sarcomas, especially in giant cases.
Assuntos
Histiocitoma Fibroso Benigno , Coxa da Perna , Humanos , Feminino , Pessoa de Meia-Idade , Coxa da Perna/patologia , Histiocitoma Fibroso Benigno/patologia , Histiocitoma Fibroso Benigno/diagnóstico por imagem , Imageamento por Ressonância Magnética , Hemossiderose/patologia , Hemossiderose/diagnóstico por imagem , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/diagnóstico por imagem , Hemossiderina/análise , Aneurisma/patologia , Aneurisma/diagnóstico por imagemRESUMO
Benign fibrous histiocytoma (BFH) within the intracerebral region is remarkably rare. Our report details 2 cases of unusual BFH instances that exhibit no adhesion to the dura mater or cerebral falx, accompanied by a comprehensive literature review. While magnetic resonance imaging demonstrates specific characteristics for BFH, it does not readily differentiate BFH from more common brain neoplasms like gliomas and metastatic tumors. The definitive diagnosis of BFH depends primarily on histopathological and immunohistochemical examinations. Total surgical resection is considered an efficacious therapeutic approach, emphasizing the necessity for prolonged postoperative surveillance to detect any potential tumor recurrence or metastasis.
Assuntos
Neoplasias Encefálicas , Histiocitoma Fibroso Benigno , Imageamento por Ressonância Magnética , Humanos , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/patologia , Histiocitoma Fibroso Benigno/patologia , Histiocitoma Fibroso Benigno/diagnóstico por imagem , Histiocitoma Fibroso Benigno/cirurgiaRESUMO
SUMMARY: Hemangiomas are the most common non-cystic benign liver tumors. Typically, they are incidentally discovered through routine radiological imaging. These tumors can become complicated and develop fibrosis, with the extreme presentation being hepatic sclerosing hemangioma (HSH), a very rare, atypical benign tumor. Initial diagnosis of HSH is often erroneous, as it can be confused with primary or secondary malignant liver neoplasms. Consequently, HSH are frequently resected, and the diagnosis is confirmed through histological and immunohistochemical studies of the resected specimen. The aim of this manuscript was to report a surgically treated case of HSH and review the existing evidence regarding its clinical and morphological characteristics. The case of a 79-year-old male patient, who underwent surgical intervention for HSH at RedSalud Mayor Temuco Clinic in October 2023, was examined. A solid tumor situated Segment VI, measuring 4 cm in its largest dimension was identified. MRI demonstrated a mass with low-signal intensity mass on T1-weighted images and areas of high-signal intensity on T2-weighted images and a hypointense mass in the hepatobiliary phase. The tumor was completely excised. Subsequent to histopathological analysis, immunohistochemical staining was performed for WT1, CD31, ERG, CD34, and Pancitoqueratina AE3 & AE1. The patient experienced an uneventful postoperative course and was discharged on the third day after the surgery. During follow-up assessments, the patient's overall condition remains satisfactory. HSH is an exceedingly rare tumor. Clinical features and imaging findings associated with this type of lesion are non-specific. It should be included in the differential diagnosis of solid liver lesions. Complete surgical resection with clear margins is the treatment of choice, and it prognosis is favorable.
Los hemangiomas son los tumores hepáticos no quísticos benignos más comunes. Lo habitual es que se descubran de forma incidental con imágenes radiológicas de rutina. Estos pueden complicarse y desarrollar fibrosis, cuya presentación extrema es el hemangioma esclerosante hepático (HEH); un tumor benigno atípico muy poco frecuente, cuyo diagnóstico inicial suele ser erróneo, confundiéndose con neoplasias malignas primarias o secundarias del hígado. Por ello, es frecuente que sean resecadas y que el diagnóstico se establezca mediante estudios histológicos y de inmunohistoquímica del espécimen resecado. El objetivo de este manuscrito fue reportar un caso de HEH, que fue intervenido quirúrgicamente; y revisar la evidencia existente respecto de sus características morfológicas y clínicas. Caso clínico: Hombre de 79 años, con HEH intervenido quirúrgicamente en Clínica RedSalud Mayor Temuco en octubre de 2023. Se verificó un tumor sólido de 4 cm de diámetro mayor, localizado en el segmento VI del hígado. La resonancia magnética demostró una masa con baja intensidad de señal en T1 y áreas de alta intensidad de señal en T2. El tumor fue extirpado por completo. Después del estudio histopatológico, se realizaron tinciones inmunohistoquímicas complementarias para WT1, CD31, ERG, CD34 y Pancitoqueratina AE3 & AE1. El paciente tuvo un curso postoperatorio sin incidentes, siendo dado de alta al tercer día postoperatorio. En el control alejado, se encuentra en buenas condiciones generales. El HEH es un tumor muy poco frecuente. Las características clínicas e imágenes de este tipo de lesiones son inespecíficas. Debe de las lesiones sólidas del hígado. La resección considerarse en el diagnóstico diferencial quirúrgica completa con bordes libres es el tratamiento de elección; y su pronóstico es favorable.
Assuntos
Humanos , Masculino , Idoso , Histiocitoma Fibroso Benigno/cirurgia , Histiocitoma Fibroso Benigno/patologia , Neoplasias Hepáticas/cirurgia , Neoplasias Hepáticas/patologia , Histiocitoma Fibroso Benigno/diagnóstico por imagem , Hemangioma Cavernoso , Neoplasias Hepáticas/diagnóstico por imagemAssuntos
Histiocitoma Fibroso Benigno , Neoplasias Cutâneas , Humanos , Masculino , Histiocitoma Fibroso Benigno/patologia , Histiocitoma Fibroso Benigno/diagnóstico , Histiocitoma Fibroso Benigno/diagnóstico por imagem , Histiocitoma Fibroso Benigno/cirurgia , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/diagnóstico , Pessoa de Meia-IdadeRESUMO
RATIONALE: Sclerosing angiomatoid nodular transformation (SANT) of the spleen is an uncommon benign vascular lesion with an obscure etiology. It predominantly affects middle-aged women and presents with nonspecific clinical signs, making preoperative diagnosis challenging. The definitive diagnosis of SANT relies on pathological examination following splenectomy. This study aims to contribute to the understanding of SANT by presenting a case series and reviewing the literature to highlight the clinical presentation, diagnostic challenges, and treatment outcomes. PATIENT CONCERNS: In this retrospective study, we analyzed the clinical data of 3 patients with confirmed SANT admitted from November 2013 to October 2023. The cases include a 25-year-old male, a 15-year-old female, and a 39-year-old male, each with a splenic mass. DIAGNOSES AND INTERVENTIONS: All of the three cases were treated by laparoscopic splenectomy (LS). Pathological examination confirmed SANT in all cases. OUTCOMES: No recurrence or metastasis was observed during a 10-year follow-up for the first 2 cases, and the third case showed no abnormalities at 2 months postoperatively. Despite its rarity, SANT is a significant condition due to its potential for misdiagnosis and the importance of distinguishing it from malignant lesions. The study underscores the utility of LS as a safe and effective treatment option. LESSONS: SANT is a rare benign tumor of the spleen, and the preoperative diagnosis of whom is challenging. LS is a safe and effective treatment for SANT, with satisfactory surgical outcomes and favorable long-term prognosis on follow-up. The study contributes to the limited body of research on this rare condition and calls for larger studies to validate these findings and improve clinical management.
Assuntos
Esplenectomia , Neoplasias Esplênicas , Humanos , Masculino , Adulto , Feminino , Esplenectomia/métodos , Adolescente , Neoplasias Esplênicas/patologia , Neoplasias Esplênicas/cirurgia , Neoplasias Esplênicas/diagnóstico , Baço/patologia , Histiocitoma Fibroso Benigno/patologia , Histiocitoma Fibroso Benigno/cirurgia , Histiocitoma Fibroso Benigno/diagnóstico , Estudos Retrospectivos , Laparoscopia/métodos , Diagnóstico Diferencial , Esplenopatias/cirurgia , Esplenopatias/patologia , Esplenopatias/diagnósticoRESUMO
Dermatofibroma (DF) is a benign tumor that forms pedunculated lesions ranging in size from a few millimeters to 2 cm, usually affecting the extremities and trunks of young adults. Histopathologically, DF is characterized by the storiform proliferation of monomorphic fibroblast-like spindle cells. In addition to neoplastic cells, secondary elements such as foamy histiocytes, Touton-type giant cells, lymphoplasmacytes, and epidermal hyperplasia are characteristic histological features. Several histological variants, including atypical, cellular, aneurysmal, and lipidized variants, have been reported; cases with variant histologies are sometimes misdiagnosed as sarcomas. We present a case of metastasizing aneurysmal DF that was initially diagnosed as an angiosarcoma on biopsy. A 26-year-old woman was referred to our hospital with a gradually enlarging subcutaneous mass in her lower left leg. Positron emission tomography-computed tomography revealed high fluorodeoxyglucose uptake not only in the tumor but also in the left inguinal region. On biopsy, ERG and CD31-positive atypical spindle cells proliferated in slit-like spaces with extravasation, leading to the diagnosis of angiosarcoma. Histology of the wide-resection specimen was consistent with DF, and lymph node metastasis was also observed. Nanopore DNA sequencing detected CD63::PRKCD fusion and copy number gain, although CD63 was not included in the target region of adaptive sampling. This report highlights the importance of recognizing the unusual clinical, radiological, and pathological features of DF to avoid misdiagnosis, and the potential diagnostic utility of nanopore sequencer.
Assuntos
Hemangiossarcoma , Histiocitoma Fibroso Benigno , Sequenciamento por Nanoporos , Proteínas de Fusão Oncogênica , Adulto , Feminino , Humanos , Hemangiossarcoma/genética , Hemangiossarcoma/diagnóstico , Hemangiossarcoma/patologia , Histiocitoma Fibroso Benigno/genética , Histiocitoma Fibroso Benigno/diagnóstico , Histiocitoma Fibroso Benigno/patologia , Sequenciamento por Nanoporos/métodos , Proteínas de Fusão Oncogênica/análise , Proteínas de Fusão Oncogênica/genética , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/diagnóstico , Tetraspanina 30/genética , Tetraspanina 30/metabolismoRESUMO
ABSTRACT: A collision tumor is an infrequent phenomenon characterized by the presence of 2 histologically distinct tumor types (either benign or malignant) occurring within the same specific anatomical site. We describe a rare case of co-occurrence of basal cell carcinoma and atypical fibroxanthoma presenting as a single lesion on the scalp in a 76-year-old man. The lesion was clinically suspicious for basal cell carcinoma and biopsied. Histologic examination showed 2 distinct tumors, one with basaloid cells and the other one with pleomorphic spindle cells colliding and growing together. Immunohistochemical stains were crucial in establishing the diagnosis. This presentation is exceedingly rare and requires additional evaluation for diagnosis.
Assuntos
Carcinoma Basocelular , Histiocitoma Fibroso Benigno , Neoplasias Cutâneas , Masculino , Humanos , Idoso , Histiocitoma Fibroso Benigno/patologia , Neoplasias Cutâneas/diagnóstico , Carcinoma Basocelular/patologia , Diagnóstico Diferencial , Couro Cabeludo/patologiaAssuntos
5-Metilcitosina , Recidiva Local de Neoplasia , Neoplasias Cutâneas , Humanos , Neoplasias Cutâneas/patologia , 5-Metilcitosina/análogos & derivados , 5-Metilcitosina/metabolismo , Recidiva Local de Neoplasia/prevenção & controle , Feminino , Masculino , Idoso , Pessoa de Meia-Idade , Histiocitoma Fibroso Benigno/patologia , Histiocitoma Fibroso Benigno/diagnóstico , Idoso de 80 Anos ou mais , Sarcoma/patologiaRESUMO
Pediatric dermatofibromas are considered rare in young children and have not been well characterized, often misdiagnosed clinically. We performed a retrospective case series of children younger than 18 years with histopathologically diagnosed dermatofibromas at our institutions and evaluated age at onset and diagnosis, sex, lesion location, and size, associated symptoms, change over time, and pre-biopsy diagnosis. Overall, dermatofibromas were most common on the back and chest (20/53; 38%), followed by the legs (15/53; 28%) and arms (12/53; 23%) with the most common pre-biopsy diagnosis of "cyst" (23/53; 43%), followed by dermatofibroma (16/53; 30%), and pilomatricoma (12/53; 23%). Our study reinforces previous findings of truncal predominance of pediatric dermatofibromas, different from adults.
Assuntos
Histiocitoma Fibroso Benigno , Neoplasias Cutâneas , Humanos , Estudos Retrospectivos , Feminino , Masculino , Criança , Neoplasias Cutâneas/patologia , Histiocitoma Fibroso Benigno/patologia , Pré-Escolar , Adolescente , Lactente , Tronco/patologiaRESUMO
ABSTRACT: Sclerosing angiomatoid nodular transformation (SANT) is a reactive non-neoplastic, rare vascular lesion of the spleen. The histology shows multiple angiomatoid nodules surrounded by proliferative stroma. A 31-year-old lady presented with an abdominal mass for 6 months. Contrast-enhanced computed tomography (CECT) abdomen was suggestive of hemangiopericytoma/hemangioendothelioma. An open splenectomy was performed, and the resected specimen was sent for histopathology examination. The gross examination showed a bosselated mass present at the lower pole of the spleen measuring 8 × 8 cm with peripherally located coalescing red-brown nodules embedded in a dense fibrous stroma on the cut surface. On microscopy, multiple circumscribed angiomatoid nodules comprising irregular slit-like vascular channels lined by plump endothelial cells were seen embedded in dense sclerotic stroma. Because of the lack of specific diagnostic features, it is difficult to diagnose SANT clinically and radiologically. However, the typical histopathological findings are a clue in clinching the diagnosis.
Assuntos
Baço , Esplenectomia , Tomografia Computadorizada por Raios X , Humanos , Adulto , Feminino , Baço/patologia , Baço/diagnóstico por imagem , Neoplasias Esplênicas/patologia , Neoplasias Esplênicas/cirurgia , Neoplasias Esplênicas/diagnóstico , Neoplasias Esplênicas/diagnóstico por imagem , Histocitoquímica , Microscopia , Histiocitoma Fibroso Benigno/patologia , Histiocitoma Fibroso Benigno/diagnóstico , Histiocitoma Fibroso Benigno/cirurgia , Histiocitoma Fibroso Benigno/diagnóstico por imagem , Radiografia Abdominal , Hemangiopericitoma/patologia , Hemangiopericitoma/diagnóstico , Hemangiopericitoma/diagnóstico por imagem , Hemangiopericitoma/cirurgiaRESUMO
This article represents the first reported case in the external auditory canal of epithelioid fibrous histiocytoma (EFH), a rare benign cutaneous epithelioid neoplasm. Immunostaining revealed uncommon negative staining for anaplastic lymphoma kinase (ALK) expression. This case and literature review outline the diagnostic strategy for this highly unusual neoplasm. Laryngoscope, 134:3371-3373, 2024.
Assuntos
Quinase do Linfoma Anaplásico , Meato Acústico Externo , Neoplasias da Orelha , Histiocitoma Fibroso Benigno , Humanos , Quinase do Linfoma Anaplásico/genética , Quinase do Linfoma Anaplásico/metabolismo , Meato Acústico Externo/patologia , Neoplasias da Orelha/patologia , Neoplasias da Orelha/cirurgia , Neoplasias da Orelha/diagnóstico , Histiocitoma Fibroso Benigno/patologia , Histiocitoma Fibroso Benigno/diagnóstico , Histiocitoma Fibroso Benigno/cirurgiaRESUMO
Cutaneous fibrous histiocytoma (FH) is considered a benign dermal tumor. The cellular variant is rare and poorly documented. Besides presenting a high risk of local recurrence, it has a low but serious metastatic potential. We present a case of metastatic cellular FH and also review the literature on this tumor, given its unusual metastatic development. A 47-year-old male patient presented with a lesion in the anterior surface of the right thigh, which has been present since adolescence but had grown during last year. Anatomopathological evaluation revealed a cellular FH, and the lesion was completely removed. Six months later, tumor recurrence with multiple compartment muscle involvement and pulmonary metastasis were detected. Both lesions were completely resected and after 3 years of follow-up, the patient is asymptomatic and free of the disease. We conclude that FH should be carefully sampled to detect variants with high local recurrence rates or with some metastatic risk such as the cellular one. We recommend wide surgical resection and a close follow-up including chest x-rays or thorax computed tomography (CT) in all cellular FH cases with local recurrence.
Assuntos
Histiocitoma Fibroso Benigno , Neoplasias Pulmonares , Neoplasias Cutâneas , Masculino , Adolescente , Humanos , Pessoa de Meia-Idade , Histiocitoma Fibroso Benigno/patologia , Neoplasias Cutâneas/patologia , Neoplasias Pulmonares/secundárioRESUMO
BACKGROUND: Diffractive microscopy creates contrast within samples that are otherwise uniform under bright light. This technique can highlight subtle differences in refractive indices within birefringent samples containing varying amounts of mature collagen. Dermatofibroma (DF) and dermatofibrosarcoma protuberans (DFSP) possess differences in their mature collagen content and, therefore, may be distinguishable using diffractive microscopy. METHODS: Two hundred forty-two DF and 85 DFSP hematoxylin-eosin (H&E)-stained specimens were analyzed using diffractive microscopy. Data regarding the distribution pattern and strength of refractility was recorded. RESULTS: DFSP was more frequently found to be focally, weakly, or non-refractile (82.9%; n = 68) under diffractive microscopy, while DF more often showed diffusely bright refractility (52.9%; n = 128). DFSP samples with diffuse refractility in portions of the lesion (17.1%; n = 14) also exhibited a unique checkerboard pattern distinct from that which was seen in DF samples. CONCLUSIONS: The absence of diffuse refractility was more closely associated with DFSP, as was the presence of a unique checkerboard diffraction pattern. Despite high sensitivity (Sn = 82.9%), absent refractility was not a specific test (Sp = 52.9%), with 47.1% (n = 114) of DF samples sharing this feature. The distinction between DF and DFSP is often diagnosed using H&E alone. In difficult cases, examination of collagen under diffractive microscopy may be useful in distinguishing DFSP from DF and provide an alternative cost-effective tool to immunohistochemical staining.
Assuntos
Dermatofibrossarcoma , Histiocitoma Fibroso Benigno , Neoplasias Cutâneas , Humanos , Dermatofibrossarcoma/diagnóstico , Dermatofibrossarcoma/patologia , Histiocitoma Fibroso Benigno/diagnóstico , Histiocitoma Fibroso Benigno/patologia , Microscopia , Diagnóstico Diferencial , Colágeno , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologiaRESUMO
Introduction: The objective of this study was to describe the CT and MRI features of sclerosing angiomatoid nodular transformation (SANT) of the spleen with pathologic correlation. Materials and Methods: Ten patients with surgically resected and pathologically confirmed SANTs were included. Clinical history was reviewed, and gross pathologic, histologic, and immunohistochemical findings were recorded. CT and MRI examinations were evaluated by two radiologists. Results: Patients included seven men and three women, with a mean age of 42.9±16.7 years. Pathologic features of SANTs involved multiple angiomatous nodules in a radiating pattern with a central stellate fibrous scar and evidence of hemosiderin deposition. 9 cases showed a lobulated demarcated margin, 8 cases a slight hypoattenuating, 1 isoattenuating, and 1 case with two lesions demonstrated a slight hyperattenuating margin, respectively. Multiple scattered punctate calcifications were involved in 2 cases. 5 cases manifested hypointensity on in-phase imaging, 1 iso-intensity, and 4 iso-hypointensity on out-of-phase imaging. Progressive and centripetal enhancement were exhibited in 10 cases, spoke-wheel pattern in 3 cases, and nodular enhancement in 4 cases, respectively. The central fibrous scar was identified in 8 cases during delayed enhancement. Conclusion: Characteristics of SANTs on CT/MRI reflected the underlying pathology. Hypointensity on DWI and T2WI, and change of signal on T1 chemicalshift imaging were found to be due to hemosiderin deposition and fibrous tissue. Typical feature was a solitary, round, lobulated mass with a fibrous scar. Progressive and centripetal enhancement, spoke-wheel pattern, nodular enhancement, and delayed enhancement of central fibrous scar were observed.
Assuntos
Histiocitoma Fibroso Benigno , Baço , Masculino , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Baço/diagnóstico por imagem , Baço/patologia , Histiocitoma Fibroso Benigno/diagnóstico por imagem , Histiocitoma Fibroso Benigno/cirurgia , Histiocitoma Fibroso Benigno/patologia , Cicatriz/patologia , Hemossiderina , Tomografia Computadorizada por Raios XRESUMO
Benign fibrous histiocytoma also known as dermatofibroma is one of the common mesenchymal neoplasms. It commonly develops in young adult with female predominance and predilection for the extremities, particularly lower extremities. Implantation of epidermis in the dermis or subcutaneous tissues may lead to the formation of epidermal inclusion cyst, which is the most common type of epithelial cyst. Development of epidermal inclusion cyst within a benign fibrous histiocytoma is a rare occurrence. This is a unique case of two unrelated lesions.
Assuntos
Cistos , Histiocitoma Fibroso Benigno , Neoplasias Cutâneas , Adulto Jovem , Humanos , Feminino , Masculino , Histiocitoma Fibroso Benigno/diagnóstico , Histiocitoma Fibroso Benigno/patologia , Extremidade Inferior/patologia , Tela Subcutânea/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologiaRESUMO
ABSTRACT: Connexins play a crucial role in the formation of gap junctions that connect cells to each other, as well as cells to the surrounding environment. In recent years, connexin 43 has been extensively studied in various human tumors. In this study, we conducted an immunohistochemical analysis to evaluate the expression of connexin in 16 dermatofibromas (DFs) and 13 dermatofibrosarcoma protuberans (DFSP). Connexin was diffusely expressed in the cytoplasm of all DFs with moderate or strong intensity, whereas all DFSPs showed negative staining. In addition to its diagnostic implications, the loss of Cx43 may elucidate the invasive capacity of DFSP and offer a potential avenue for future therapeutic interventions.
Assuntos
Conexina 43 , Dermatofibrossarcoma , Regulação Neoplásica da Expressão Gênica , Histiocitoma Fibroso Benigno , Conexina 43/genética , Conexina 43/metabolismo , Histiocitoma Fibroso Benigno/diagnóstico , Histiocitoma Fibroso Benigno/patologia , Dermatofibrossarcoma/diagnóstico , Dermatofibrossarcoma/patologia , Humanos , Biomarcadores Tumorais/metabolismo , Masculino , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Imuno-Histoquímica , Citoplasma/metabolismoRESUMO
Hepatocellular carcinoma is a prevalent malignant tumor affecting the liver, and surgical resection and liver transplantation are the primary treatment options for early-stage HCC patients. However, the presence of benign hepatic tumors with similar imaging characteristics to HCC poses challenges in diagnosing and treating the disease, often resulting in misdiagnosis and inappropriate treatment. This case report presents a 52-year-old female patient who exhibited space-occupying liver lesions on abdominal CT and MRI scans. Based on pathological sections from other hospitals, liver malignancy was highly suspected, and hepatocellular tumor was diagnosed preoperatively. But the tumor markers of the patient were all within the normal range. After evaluating the overall condition of the patient, we finally chose the diagnosis and treatment of dissection and partial hepatectomy. Surprisingly, the final diagnosis of postoperative pathology was sclerosing hemangioma. The patient recovered well and was discharged 2 weeks later. Hepatic sclerosing hemangioma is an extremely rare disease that can be easily mistaken for malignant liver tumors due to absence of typical imaging presentations. The diagnosis also needs to be differentiated from other benign tumors, such as liver adenoma and liver abscess, according to the medical history, symptoms, and auxiliary examinations. Therefore, special attention should be given to the diagnosis and treatment of sclerosing hemangioma.
Assuntos
Carcinoma Hepatocelular , Histiocitoma Fibroso Benigno , Neoplasias Hepáticas , Feminino , Humanos , Pessoa de Meia-Idade , Carcinoma Hepatocelular/diagnóstico por imagem , Carcinoma Hepatocelular/patologia , Neoplasias Hepáticas/diagnóstico por imagem , Neoplasias Hepáticas/patologia , Histiocitoma Fibroso Benigno/patologia , Imageamento por Ressonância Magnética , Biomarcadores TumoraisRESUMO
ABSTRACT: Epithelioid fibrous histiocytoma (EFH) is a distinctive benign cutaneous neoplasm composed of uniform epithelioid cells, often with binucleated cells. EFH are characterized by the presence of anaplastic lymphoma kinase ( ALK ) gene rearrangements with a variety of binding partners. These rearrangements result in the overexpression of ALK , which can be detected using immunohistochemistry. Cytoplasmic ALK expression is by far the most common pattern encountered. Here, we describe a case of EFH with a distinctive intranuclear dot-like ALK expression pattern. Subsequent next-generation DNA sequencing revealed a novel SP100::ALK gene fusion. Speckled protein-100 (SP100) is a constituent of nuclear dots, also known as promyelocytic leukemia bodies, which are still poorly understood membraneless subnuclear structures. Thus, this novel ALK fusion partner seems to explain this distinctive pattern of ALK localization. We examined ALK expression patterns in 11 other cases of EFH, but all showed typical cytoplasmic localization. This study expands the morphologic and molecular spectrum of EFH, provides a dramatic illustration of the ability of fusion partners to control protein localization, and implies that tumorigenic ALK signaling may occur at a variety of subcellular locations.
Assuntos
Histiocitoma Fibroso Benigno , Neoplasias Cutâneas , Humanos , Quinase do Linfoma Anaplásico/genética , Histiocitoma Fibroso Benigno/patologia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Fusão Gênica , Rearranjo GênicoRESUMO
OBJECTIVE: Intra-osseous fibrohistiocytic lesions have long been reported in the literature; evidence suggests they represent a heterogeneous group of reactive and neoplastic processes. This study evaluated a series of gnathic fibrohistiocytic lesions to identify and categorize their clinical, radiographic and morphologic spectrum. STUDY DESIGN: A retrospective case search over 48 years was conducted for maxillary and mandibular intra-bony fibrohistiocytic lesions. Diagnoses were confirmed and demographic, radiographic, clinical and follow-up data was analyzed. RESULTS: Fifty cases met the inclusion criteria. Most cases (80%) were found in the second through fourth decades (mean, 29 years). The most common location (86%) was the posterior mandible. Radiographic presentations varied, but a few patterns emerged, including a distinctive mottled, honeycomb type with punctate lucencies. All cases demonstrated fibrous components admixed with variable histiocytes. Eight cases (16%) were histiocyte-rich with dominant sheets of xanthoma cells. Immunohistochemical staining revealed strong CD68 and CD163 expression, along with variable smooth muscle actin staining. The vast majority (92%) of cases were treated conservatively. Available follow-up showed lesional stability in 17 cases (average, 85 months) with 2 recurrences (24 months each) and no evidence of malignant transformation. CONCLUSIONS: This study is the largest to date of fibrohistiocytic gnathic lesions, revealing distinctive radiographic and histologic findings and characteristic clinical and immunophenotypic features. Available evidence suggests that most of these are indolent, slow-growing lesions amenable to conservative therapy.